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Your search keyword '"Franciele B. Trapp"' showing total 5 results
Start Over Author "Franciele B. Trapp" Topic endocrinology
5 results on '"Franciele B. Trapp"'

1. Corrigendum to ' Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry' [32/100888 (2022) page 1–4]

Author

Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, and Roberto Giugliani

Subjects
Endocrinology, Genetics, Corrigendum, Molecular Biology
Published
2022

2. Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry

Author

Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, and Roberto Giugliani

Subjects
Endocrinology, Genetics, Molecular Biology
Abstract

Aromatic l-amino acid decarboxylase (AADC, EC 4.1.1.28) deficiency is a rare genetic disorder characterized by developmental delay, oculogyric crises, autonomic dysfunction and other problems, caused by biallelic mutations in the

Published
2022

5. Prenatal diagnosis of mucopolysaccharidosis type VI by analysis of the amniotic fluid supernatant in the mass spectrometry era

Author

Francyne Kubaski, Ana Cecília Menezes, Zackary M. Herbst, Danilo Pereira, Camilo Silva, Larissa Faqueti, Gabrielle Iop, Franciele B. Trapp, Ana Carolina Brusius-Facchin, Alice B.O. Netto, Rejane G. Kessler, Kristiane Michelin-Tirelli, Maira G. Burin, Robert W. Mason, Shunji Tomatsu, and Roberto Giugliani

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
Published
2022

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